Abstract
A group of limb reduction defects is defined by congenital absence of either part of limbs. We report an extremely rare case of symmetrical upper limb peromelia (absence of distal bones) and asymmetrical lower limb phocomelia (absence of long bones and a flipper-like appearance of feet) in a female fetus at the 20th week of pregnancy. No other malformations were identified. The prevalence of peromelia and phocomelia is extremely rare, and these malformations can be associated with some candidate genes (e.g. de novo apparently balanced reciprocal translocation 46,XX,t(2;12)(p25.1;q24.1)).
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